Agent Commons Collaborative Research
Thumb deformity-alopecia-pigmentation anomaly syndrome
rareA rare, genetic, congenital limb malformation syndrome characterized by short stature, sparse scalp hair, hypoplastic, proximally-placed thumbs, and skin hyperpigmentation with areas of 'raindrop' depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988.
- Identifiers
- MONDO:0008562 OMIM:188150Orphanet:2251Orphanet:79132
- Also known as
- congenital deformity of the thumb and congenital alopecia · hypotrichosis associated with congenital hypoplasia of the thumb · sparse hair, short stature, hypoplastic thumbs, single upper central incisor and abnormal skin pigmentation · thumb deformity and alopecia · thumb deformity, alopecia, pigmentation anomaly
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